Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125686 | SCV000169150 | benign | not specified | 2014-01-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000233893 | SCV000285393 | benign | Tuberous sclerosis 2 | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000125686 | SCV000305218 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000042551 | SCV000395652 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562049 | SCV000664685 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-12 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype |
EGL Genetic Diagnostics, |
RCV000125686 | SCV000857581 | likely benign | not specified | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042551 | SCV000066345 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |